Incidental Mutation 'IGL01366:Gata3'
ID |
75928 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gata3
|
Ensembl Gene |
ENSMUSG00000015619 |
Gene Name |
GATA binding protein 3 |
Synonyms |
jal, Gata-3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01366
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
9861889-9894845 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9882276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 42
(L42P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026889]
[ENSMUST00000102976]
[ENSMUST00000130615]
|
AlphaFold |
P23772 |
PDB Structure |
Adjacent GATA DNA binding [X-RAY DIFFRACTION]
Opposite GATA DNA binding [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026889
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102976
AA Change: L42P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000100041 Gene: ENSMUSG00000015619 AA Change: L42P
Domain | Start | End | E-Value | Type |
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
low complexity region
|
153 |
165 |
N/A |
INTRINSIC |
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
ZnF_GATA
|
257 |
307 |
3.65e-20 |
SMART |
ZnF_GATA
|
311 |
361 |
2.9e-23 |
SMART |
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
low complexity region
|
399 |
425 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130615
AA Change: L7P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000119730 Gene: ENSMUSG00000015619 AA Change: L7P
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
114 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147533
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151456
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153509
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009] PHENOTYPE: Homozygous inactivation is embryonic lethal and show a variety of embryonic defects. T cell development is impaired when the locus is conditionally. Mice with a spontaneous mutation exhibit partial hair loss and various defects in hair structure and in hair growth cycle regulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
Other mutations in Gata3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03168:Gata3
|
APN |
2 |
9,873,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Gata3
|
UTSW |
2 |
9,863,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R0123:Gata3
|
UTSW |
2 |
9,879,620 (GRCm39) |
missense |
probably benign |
0.11 |
R0225:Gata3
|
UTSW |
2 |
9,879,620 (GRCm39) |
missense |
probably benign |
0.11 |
R0724:Gata3
|
UTSW |
2 |
9,879,386 (GRCm39) |
missense |
probably benign |
|
R1491:Gata3
|
UTSW |
2 |
9,882,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R1576:Gata3
|
UTSW |
2 |
9,868,007 (GRCm39) |
missense |
probably damaging |
0.98 |
R1608:Gata3
|
UTSW |
2 |
9,879,579 (GRCm39) |
nonsense |
probably null |
|
R1667:Gata3
|
UTSW |
2 |
9,882,360 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3119:Gata3
|
UTSW |
2 |
9,882,396 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3753:Gata3
|
UTSW |
2 |
9,873,651 (GRCm39) |
missense |
probably benign |
0.39 |
R3876:Gata3
|
UTSW |
2 |
9,867,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R5040:Gata3
|
UTSW |
2 |
9,863,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R5292:Gata3
|
UTSW |
2 |
9,873,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6414:Gata3
|
UTSW |
2 |
9,863,245 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6696:Gata3
|
UTSW |
2 |
9,879,303 (GRCm39) |
nonsense |
probably null |
|
R6848:Gata3
|
UTSW |
2 |
9,863,339 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7580:Gata3
|
UTSW |
2 |
9,867,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7900:Gata3
|
UTSW |
2 |
9,863,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8551:Gata3
|
UTSW |
2 |
9,867,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Gata3
|
UTSW |
2 |
9,863,297 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9775:Gata3
|
UTSW |
2 |
9,863,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2013-10-07 |